Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Craniorachischisis |
Finding site |
False |
Neural tube structure |
Inferred relationship |
Some |
3 |
Iniencephaly |
Finding site |
False |
Neural tube structure |
Inferred relationship |
Some |
1 |
Spina bifida of sacral region (disorder) |
Finding site |
False |
Neural tube structure |
Inferred relationship |
Some |
2 |
diastématomyélie |
Finding site |
False |
Neural tube structure |
Inferred relationship |
Some |
2 |
Split spinal cord malformation (disorder) |
Finding site |
True |
Neural tube structure |
Inferred relationship |
Some |
2 |
Spina bifida of sacral region (disorder) |
Finding site |
False |
Neural tube structure |
Inferred relationship |
Some |
5 |
diastématomyélie |
Finding site |
False |
Neural tube structure |
Inferred relationship |
Some |
4 |
Known OR suspected fetal spina bifida with myelomeningocele affecting obstetrical care |
Finding site |
False |
Neural tube structure |
Inferred relationship |
Some |
9 |
Myelocele with hydrocephalus (disorder) |
Finding site |
False |
Neural tube structure |
Inferred relationship |
Some |
9 |
Occult spinal dysraphism sequence |
Finding site |
True |
Neural tube structure |
Inferred relationship |
Some |
3 |
kyste neurentérique |
Finding site |
False |
Neural tube structure |
Inferred relationship |
Some |
1 |
Hemimyelia |
Finding site |
True |
Neural tube structure |
Inferred relationship |
Some |
2 |
Craniorachischisis |
Finding site |
True |
Neural tube structure |
Inferred relationship |
Some |
1 |
Thoracic spina bifida without hydrocephalus - open |
Finding site |
True |
Neural tube structure |
Inferred relationship |
Some |
1 |
Thoracic spina bifida with hydrocephalus |
Finding site |
True |
Neural tube structure |
Inferred relationship |
Some |
2 |
Cervical spina bifida with hydrocephalus - open |
Finding site |
True |
Neural tube structure |
Inferred relationship |
Some |
2 |
Sacral spina bifida without hydrocephalus - closed |
Finding site |
True |
Neural tube structure |
Inferred relationship |
Some |
2 |
Spina bifida aperta of thoracic spine (disorder) |
Finding site |
True |
Neural tube structure |
Inferred relationship |
Some |
3 |
Spina bifida |
Finding site |
True |
Neural tube structure |
Inferred relationship |
Some |
2 |
Faun tail syndrome |
Finding site |
True |
Neural tube structure |
Inferred relationship |
Some |
1 |
Neuroenteric cyst and associated malformation |
Finding site |
False |
Neural tube structure |
Inferred relationship |
Some |
1 |
Cervical spina bifida without hydrocephalus - closed |
Finding site |
True |
Neural tube structure |
Inferred relationship |
Some |
2 |
Lumbar spina bifida without hydrocephalus - closed |
Finding site |
True |
Neural tube structure |
Inferred relationship |
Some |
2 |
Rachischisis with hydrocephalus |
Finding site |
True |
Neural tube structure |
Inferred relationship |
Some |
2 |
Thoracic spina bifida with hydrocephalus - closed |
Finding site |
True |
Neural tube structure |
Inferred relationship |
Some |
3 |
Myelodysplasia of spinal cord |
Finding site |
True |
Neural tube structure |
Inferred relationship |
Some |
1 |
Thoracic spina bifida without hydrocephalus - closed |
Finding site |
True |
Neural tube structure |
Inferred relationship |
Some |
2 |
Rachischisis is a neural tube defect, which occurs when the neural folds do not join at the midline and the undifferentiated neuroectoderm remains exposed. Rachischisis totalis (holorachischisis) is the extreme form in which the entire spinal cord remains open. |
Finding site |
False |
Neural tube structure |
Inferred relationship |
Some |
1 |
Cervical spina bifida without hydrocephalus - open |
Finding site |
True |
Neural tube structure |
Inferred relationship |
Some |
2 |
Neural tube defect |
Finding site |
True |
Neural tube structure |
Inferred relationship |
Some |
1 |
Spina bifida with hydrocephalus of late onset |
Finding site |
True |
Neural tube structure |
Inferred relationship |
Some |
2 |
Fissured spine with hydrocephalus |
Finding site |
False |
Neural tube structure |
Inferred relationship |
Some |
3 |
Iniencephaly - closed |
Finding site |
True |
Neural tube structure |
Inferred relationship |
Some |
1 |
Cervical spina bifida with hydrocephalus |
Finding site |
True |
Neural tube structure |
Inferred relationship |
Some |
3 |
Iniencephaly - open |
Finding site |
True |
Neural tube structure |
Inferred relationship |
Some |
1 |
Cervical spina bifida with hydrocephalus - closed |
Finding site |
True |
Neural tube structure |
Inferred relationship |
Some |
2 |
Spina bifida aperta of lumbar spine (disorder) |
Finding site |
True |
Neural tube structure |
Inferred relationship |
Some |
3 |
diastématomyélie |
Finding site |
False |
Neural tube structure |
Inferred relationship |
Some |
3 |
Hydromyelia |
Finding site |
True |
Neural tube structure |
Inferred relationship |
Some |
3 |
Exencephaly |
Finding site |
True |
Neural tube structure |
Inferred relationship |
Some |
3 |
Cataract-congenital heart disease-neural tube defect syndrome is a multiple congenital anomaly syndrome characterized by sacral neural tube defects resulting in tethered cord, atrial and/or ventricular septal heart defects (that are detected in infancy), bilateral, symmetrical hyperopia, rapidly progressive early childhood cataracts, bilateral aphakic glaucoma, and abnormal facial features (low frontal hairline, small ears, short philtrum, prominent, widely spaced central incisors, and micrognathia). Hypotonia, growth and developmental delay, seizures, and joint limitation are also reported. |
Finding site |
False |
Neural tube structure |
Inferred relationship |
Some |
8 |
Czeizel-Losonci syndrome (CLS) is an exceedingly rare, severe, congenital genetic malformation disorder characterized by split hand/split foot, hydronephrosis, and spina bifida. Spinal and skeletal manifestations were thoracolumbar scoliosis, spina bifida (spina bifida occulta or spina bifida cystic), Bochdalek diaphragmatic hernia, and radial defects. There have been no further descriptions in the literature since 1987. |
Finding site |
False |
Neural tube structure |
Inferred relationship |
Some |
7 |
Spina bifida-hypospadias syndrome is a rare developmental defect during embryogenesis disorder characterized by the specific association of glandular hypospadias and lumbo-sacral spina bifida. Affected individuals may or may not present additional congenital anomalies, such as hydrocephaly, microstomia, patent ductus arteriosus, cryptorchidism, intestinal malrotation, rocker-bottom feet, and hypertrichosis. |
Finding site |
True |
Neural tube structure |
Inferred relationship |
Some |
4 |
Primary tethered cord syndrome is a genetic, non-syndromic congenital malformation of the neurenteric canal, spinal cord and column characterized by progressive neurologic deterioration (pain, sensorimotor deficits, abnormal gait, decreased tone or abnormal reflexes), musculoskeletal changes (foot deformities and asymmetry, muscle atrophy, limb weakness and numbness, gait disturbances, scoliosis) and/or genitourinary manifestations (bladder and bowel dysfunction). Midline cutaneous stigmata in the lumbosacral region, such as tufts of hair, skin appendages, dimples, subcutaneous lipomas, skin discoloration or hemangiomas, are frequently associated. |
Finding site |
True |
Neural tube structure |
Inferred relationship |
Some |
3 |
Leptomyelolipoma (disorder) |
Finding site |
True |
Neural tube structure |
Inferred relationship |
Some |
1 |
Spina bifida with hydrocephalus - closed |
Finding site |
True |
Neural tube structure |
Inferred relationship |
Some |
1 |
Spina bifida without hydrocephalus - open |
Finding site |
True |
Neural tube structure |
Inferred relationship |
Some |
2 |
Spina bifida with stenosis of aqueduct of Sylvius |
Finding site |
True |
Neural tube structure |
Inferred relationship |
Some |
3 |
Lumbar spina bifida with hydrocephalus - open |
Finding site |
True |
Neural tube structure |
Inferred relationship |
Some |
4 |
Spina bifida aperta of cervical spine (disorder) |
Finding site |
True |
Neural tube structure |
Inferred relationship |
Some |
3 |
Spina bifida of sacral region (disorder) |
Finding site |
True |
Neural tube structure |
Inferred relationship |
Some |
3 |
Lumbar spina bifida without hydrocephalus - open |
Finding site |
True |
Neural tube structure |
Inferred relationship |
Some |
3 |
Sacral spina bifida without hydrocephalus - open |
Finding site |
True |
Neural tube structure |
Inferred relationship |
Some |
3 |
Spina bifida of cervical region |
Finding site |
True |
Neural tube structure |
Inferred relationship |
Some |
3 |
Hemimyelocele |
Finding site |
True |
Neural tube structure |
Inferred relationship |
Some |
2 |
Spina bifida without hydrocephalus - closed |
Finding site |
True |
Neural tube structure |
Inferred relationship |
Some |
2 |
Spina bifida of lumbar region |
Finding site |
True |
Neural tube structure |
Inferred relationship |
Some |
3 |
Spina bifida without hydrocephalus |
Finding site |
True |
Neural tube structure |
Inferred relationship |
Some |
2 |
Spina bifida with hydrocephalus |
Finding site |
True |
Neural tube structure |
Inferred relationship |
Some |
3 |
Czeizel-Losonci syndrome (CLS) is an exceedingly rare, severe, congenital genetic malformation disorder characterized by split hand/split foot, hydronephrosis, and spina bifida. Spinal and skeletal manifestations were thoracolumbar scoliosis, spina bifida (spina bifida occulta or spina bifida cystic), Bochdalek diaphragmatic hernia, and radial defects. There have been no further descriptions in the literature since 1987. |
Finding site |
True |
Neural tube structure |
Inferred relationship |
Some |
4 |
Spina bifida aperta |
Finding site |
True |
Neural tube structure |
Inferred relationship |
Some |
3 |
A rare closed neural tube defect characterized by cystic dilatation of the central canal of the spinal cord, herniating through a posterior vertebral arch defect (spina bifida) into an expanded cerebrospinal fluid (CSF) filled dural sac (meningocele). It can be located at the caudal part of the spinal cord (terminal myelocystocele) or above conus (non-terminal myelocystocele). |
Finding site |
True |
Neural tube structure |
Inferred relationship |
Some |
2 |
Fissured spine |
Finding site |
False |
Neural tube structure |
Inferred relationship |
Some |
2 |
A neural tube defect with characteristics of improper closure of the spinal column during embryonal development. In the case of spina bifida occulta the site of the lesion is not exposed, there is a midline defect of the vertebral bodies without protrusion of the spinal cord or meninges. |
Finding site |
True |
Neural tube structure |
Inferred relationship |
Some |
2 |
Spina bifida of dorsal region (disorder) |
Finding site |
True |
Neural tube structure |
Inferred relationship |
Some |
3 |
Lumbar myelocystocele |
Finding site |
True |
Neural tube structure |
Inferred relationship |
Some |
3 |
Thoracolumbar spina bifida without hydrocephalus - closed |
Finding site |
True |
Neural tube structure |
Inferred relationship |
Some |
2 |
Thoracolumbar spina bifida with hydrocephalus - closed (disorder) |
Finding site |
True |
Neural tube structure |
Inferred relationship |
Some |
3 |
Hydrorhachis |
Finding site |
False |
Neural tube structure |
Inferred relationship |
Some |
1 |
Cataract-congenital heart disease-neural tube defect syndrome is a multiple congenital anomaly syndrome characterized by sacral neural tube defects resulting in tethered cord, atrial and/or ventricular septal heart defects (that are detected in infancy), bilateral, symmetrical hyperopia, rapidly progressive early childhood cataracts, bilateral aphakic glaucoma, and abnormal facial features (low frontal hairline, small ears, short philtrum, prominent, widely spaced central incisors, and micrognathia). Hypotonia, growth and developmental delay, seizures, and joint limitation are also reported. |
Finding site |
True |
Neural tube structure |
Inferred relationship |
Some |
2 |
Sacral spina bifida with hydrocephalus - open |
Finding site |
True |
Neural tube structure |
Inferred relationship |
Some |
4 |
Spina bifida with hydrocephalus - open |
Finding site |
True |
Neural tube structure |
Inferred relationship |
Some |
2 |
Lumbar spina bifida with hydrocephalus - closed |
Finding site |
True |
Neural tube structure |
Inferred relationship |
Some |
2 |
Sacral spina bifida with hydrocephalus - closed |
Finding site |
True |
Neural tube structure |
Inferred relationship |
Some |
2 |
Lumbar spina bifida with hydrocephalus |
Finding site |
True |
Neural tube structure |
Inferred relationship |
Some |
2 |
Thoracic spina bifida with hydrocephalus - open |
Finding site |
True |
Neural tube structure |
Inferred relationship |
Some |
1 |
Cervical myelocystocele |
Finding site |
True |
Neural tube structure |
Inferred relationship |
Some |
3 |
Thoracic myelocystocele |
Finding site |
True |
Neural tube structure |
Inferred relationship |
Some |
3 |
Myelocele with hydrocephalus (disorder) |
Finding site |
True |
Neural tube structure |
Inferred relationship |
Some |
1 |
Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome is a rare, genetic, neural tube defect malformation syndrome characterized by sacral agenesis and abnormal vertebral body ossification with normal vertebral arches associated with notochord canal persistence on ultrasonography. Additional findings include bilateral clubfoot, oligohydramnios, single umbilical artery and, in some, increased nuchal translucency. |
Finding site |
True |
Neural tube structure |
Inferred relationship |
Some |
1 |
Dandy-Walker syndrome with spina bifida |
Finding site |
True |
Neural tube structure |
Inferred relationship |
Some |
2 |
Myelomeningocele that occurs in the region L1 to L3. |
Finding site |
True |
Neural tube structure |
Inferred relationship |
Some |
3 |
Myelomeningocele that occurs in the region L4 to L5. |
Finding site |
True |
Neural tube structure |
Inferred relationship |
Some |
3 |
Myelomeningocele co-occurrent with hydrocephalus (disorder) |
Finding site |
True |
Neural tube structure |
Inferred relationship |
Some |
3 |
hydromyéloméningocèle |
Finding site |
False |
Neural tube structure |
Inferred relationship |
Some |
5 |
Lumbar meningomyelocele |
Finding site |
True |
Neural tube structure |
Inferred relationship |
Some |
4 |
Myelomeningocele without hydrocephalus (disorder) |
Finding site |
True |
Neural tube structure |
Inferred relationship |
Some |
2 |
Lipomyelomeningocele |
Finding site |
False |
Neural tube structure |
Inferred relationship |
Some |
3 |
Meningomyelocele (disorder) |
Finding site |
True |
Neural tube structure |
Inferred relationship |
Some |
5 |
Thoracic meningomyelocele |
Finding site |
True |
Neural tube structure |
Inferred relationship |
Some |
5 |
Cervical meningomyelocele |
Finding site |
True |
Neural tube structure |
Inferred relationship |
Some |
4 |
Fetal spina bifida (disorder) |
Finding site |
True |
Neural tube structure |
Inferred relationship |
Some |
2 |
Meningomyelocele of lumbosacral spine (disorder) |
Finding site |
True |
Neural tube structure |
Inferred relationship |
Some |
2 |
Neurenteric cyst (disorder) |
Finding site |
True |
Neural tube structure |
Inferred relationship |
Some |
1 |
Structure of fetal neural tube |
Is a |
True |
Neural tube structure |
Inferred relationship |
Some |
|
Cervicothoracic spina bifida aperta with hydrocephalus |
Finding site |
True |
Neural tube structure |
Inferred relationship |
Some |
6 |
Cervicothoracic spina bifida aperta |
Finding site |
True |
Neural tube structure |
Inferred relationship |
Some |
5 |
Lumbosacral spina bifida aperta |
Finding site |
True |
Neural tube structure |
Inferred relationship |
Some |
6 |
Lumbosacral spina bifida aperta with hydrocephalus |
Finding site |
True |
Neural tube structure |
Inferred relationship |
Some |
6 |
Thoracolumbosacral spina bifida aperta (disorder) |
Finding site |
True |
Neural tube structure |
Inferred relationship |
Some |
8 |
Spina bifida aperta of upper thoracic spine (disorder) |
Finding site |
True |
Neural tube structure |
Inferred relationship |
Some |
4 |